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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
- Karen Paik, Matthew A. Lines, Pranesh Chakraborty, Sara D. Khangura, Maureen Latocki, Walla Al-Hertani, Catherine Brunel-Guitton, Aneal Khan, Blaine Penny, Cheryl Rockman-Greenberg, C. Anthony Rupar, Neal Sondheimer, Mark Tarnopolsky, Kylie Tingley, Doug Coyle, Sarah Dyack, Annette Feigenbaum, Michael T. Geraghty, Jane Gillis, Clara D. M. van Karnebeek, Jonathan B. Kronick, Julian Little, Murray Potter, Komudi Siriwardena, Rebecca Sparkes, Lesley A. Turner, Kumanan Wilson, Daniela Buhas, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network
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- Journal:
- Canadian Journal of Neurological Sciences / Volume 46 / Issue 6 / November 2019
- Published online by Cambridge University Press:
- 07 August 2019, pp. 717-726
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Background:
An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care.
Methods:We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities.
Results:We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend “mitochondrial cocktails” for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority.
Conclusions:While Canadian physicians’ views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols.